[PDF][PDF] 第二代测序在检测人类基因突变中的应用
张喆, 黄河 - 生命科学研究, 2012 - smkx.hunnu.edu.cn
摘要院神经富亮氨酸重复家族成员LRRN3 (leucine 鄄rich repeat neuronal protein 3)
是一种在进化上高度保守, 功能多样, 由多个连续的LRR 结构域, 纤维连接蛋白3 型结构域(FN …
是一种在进化上高度保守, 功能多样, 由多个连续的LRR 结构域, 纤维连接蛋白3 型结构域(FN …
In silico and In vivo Studies of Calotropis procera leaf and root extracts on Mitochondrial-Related parameters in Wistar Rats
AD Adisa, PF Olabinri, AT Oyedeji… - IPS Journal of …, 2023 - drugdiscoveryupdate.com
Abstract Drugs targeting Mitochondrial Membrane Permeability Transition (MMPT) pore
opening are of great interest for conditions arising from apoptosis dysregulation. This study …
opening are of great interest for conditions arising from apoptosis dysregulation. This study …
Detection of pathogenic mutations and the mechanism of a rare chromosomal rearrangement in a Chinese family with Becker muscular dystrophy
F Li, Y Li, K Cui, C Li, W Chen, J Gao, Y Zhu, C Zeng… - Clinica Chimica …, 2012 - Elsevier
OBJECTIVE: The objectives of this research are to genetically diagnose a family with Becker
muscular dystrophy (BMD), to explore the molecular mechanism of the disease, and to …
muscular dystrophy (BMD), to explore the molecular mechanism of the disease, and to …
The applications and challenges of next-generation sequencing in diagnosing neuromuscular disorders
L Wang, A Ankala, H Al Khallaf, X Wang… - … based clinical molecular …, 2017 - Springer
Inherited neuromuscular disorders (NMDs) form a group of highly heterogeneous diseases
with a relatively high incidence of 1 in 3000. NMDs affect the peripheral nervous and …
with a relatively high incidence of 1 in 3000. NMDs affect the peripheral nervous and …
下一代测序技术在遗传病临床检测中的应用
杨学习 - 分子诊断与治疗杂志, 2016 - cqvip.com
DNA 测序技术已广泛应用于生物学研究, 很多生物学问题也都可以借助测序技术予以解决.
过去10 年(2005-2015 年), 下一代测序技术(next generation sequencing, NGS) …
过去10 年(2005-2015 年), 下一代测序技术(next generation sequencing, NGS) …
目标区序列捕获和第二代测序技术在Duchenne 型肌营养不良基因诊断中的应用
张莹, 黄旭升, 刘丽, 李懋, 张小兰, 陈朝晖, 凌丽 - 解放军医药杂志, 2015 - cqvip.com
目的应用目标区序列捕获和第2 代测序技术对Duchenne 型肌营养不良患者进行基因检测,
验证该方法的敏感度和特异度. 方法应用目标区序列捕获和第2 代高通量测序技术对19 …
验证该方法的敏感度和特异度. 方法应用目标区序列捕获和第2 代高通量测序技术对19 …
[PDF][PDF] 目标序列捕获二代测序技术在苯丙酮尿症基因诊断中的应用
陈瑛, 魏晓明, 王本敬, 易鑫, 毛君 - 复旦学报(医学版), 2015 - jms.fudan.edu.cn
目的评估目标序列捕获二代测序技术在苯丙酮尿症(phenylketonuria, PKU)
基因诊断中的应用价值. 方法采用目标区序列捕获及第二代测序技术对9 例经典型PKU …
基因诊断中的应用价值. 方法采用目标区序列捕获及第二代测序技术对9 例经典型PKU …
假性肥大型进行性肌营养不良家系的缺陷基因检测
甘志超, 黎锦, 郑芳, 高嘉嘉, 荣媛, 宋贵波 - 武汉大学学报: 医学版, 2014 - cqvip.com
目的: 对临床诊断为假性肥大型进行性肌营养不良(DMD/BMD) 家系进行基因分析,
以帮助寻找致病基因的分子缺陷, 明确其疾病诊断, 并对后续妊娠进行产前指导. 方法: 采用touch …
以帮助寻找致病基因的分子缺陷, 明确其疾病诊断, 并对后续妊娠进行产前指导. 方法: 采用touch …
Detection of Fetal Single Gene Mutations through Targeted Sequencing of Maternal cell-free DNA
J Namkung - 2020 IEEE International Conference on …, 2020 - ieeexplore.ieee.org
Non-invasive prenatal tests are available for chromosomal aneuploidy but not for
monogenic diseases yet. This study aimed to develop analysis method for detecting fetal …
monogenic diseases yet. This study aimed to develop analysis method for detecting fetal …
[PDF][PDF] Duchenne's Muscular Dystrophy involves a defective transsulfuration pathway activity
M Bucci, D Montesano - academia.edu
Duchenne muscular dystrophy (DMD) is the most frequent X chromosome-linked disease
caused by mutations in the gene encoding for dystrophin, leading to progressive and …
caused by mutations in the gene encoding for dystrophin, leading to progressive and …